Associated Papers
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 2023
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.
Imaizumi T et al.
Intractable & Rare Diseases Research, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Pizzino A et al.
American Journal of Medical Genetics. Part A, 2018
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
Nakamura Y et al.
Brain & Development, 2018
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